Abstract:
:PAHdb (http://www.mcgill.ca/pahdb ) is a curated relational database (Fig. 1) of nucleotide variation in the human PAH cDNA (GenBank U49897). Among 328 different mutations by state (Fig. 2) the majority are rare mutations causing hyperphenylalaninemia (HPA) (OMIM 261600), the remainder are polymorphic variants without apparent effect on phenotype. PAHdb modules contain mutations, polymorphic haplotypes, genotype-phenotype correlations, expression analysis, sources of information and the reference sequence; the database also contains pages of clinical information and data on three ENU mouse orthologues of human HPA. Only six different mutations account for 60% of human HPA chromosomes worldwide, mutations stratify by population and geographic region, and the Oriental and Caucasian mutation sets are different (Fig. 3). PAHdb provides curated electronic publication and one third of its incoming reports are direct submissions. Each different mutation receives a systematic (nucleotide) name and a unique identifier (UID). Data are accessed both by a Newsletter and a search engine on the website; integrity of the database is ensured by keeping the curated template offline. There have been >6500 online interrogations of the website.
journal_name
Nucleic Acids Resjournal_title
Nucleic acids researchauthors
Nowacki PM,Byck S,Prevost L,Scriver CRdoi
10.1093/nar/26.1.220subject
Has Abstractpub_date
1998-01-01 00:00:00pages
220-5issue
1eissn
0305-1048issn
1362-4962pii
gkb038journal_volume
26pub_type
杂志文章abstract::The first step in DNA cleavage at V(D)J recombination signals by RAG1 and RAG2 is creation of a nick at the heptamer/coding flank border. Under proper conditions in vitro the second step, hairpin formation, requires two signals with spacers of 12 and 23 bp, a restriction referred to as the 12/23 rule. Under these cond...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/25.21.4370
更新日期:1997-11-01 00:00:00
abstract::Ethidium causes the cleavage of DNA via a light and oxygen dependent process. Using covalently closed circular DNA as a substrate, the saturation kinetics and the dependence on superhelical density of the cleavage indicate that intercalated ethidium is mainly responsible for nicking DNA. Superoxide dismutase has littl...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/3.2.315
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abstract::Pentatricopeptide repeat (PPR) proteins are helical-repeat proteins that offer a promising scaffold for the engineering of proteins to bind specified RNAs. PPR tracts bind RNA in a modular 1-repeat, 1-nucleotide fashion. An amino acid code specifying the bound nucleotide has been elucidated. However, this code does no...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkx1288
更新日期:2018-03-16 00:00:00
abstract::A somatic cell hybrid line containing only human chromosome 21 on a mouse background has been used as the source of DNA for construction of a recombinant phage library. Individual phages containing human inserts have been identified. Repeat-free human DNA subclones have been prepared and used to screen for restriction...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/13.17.6075
更新日期:1985-09-11 00:00:00
abstract::A physical mapping strategy has been developed to verify and accelerate the assembly and gap closure phase of a microbial genome shotgun-sequencing project. The protocol was worked out during the ongoing Pseudomonas putida KT2440 genome project. A macro-restriction map was constructed by linking probe hybridisation of...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/29.22.e110
更新日期:2001-11-15 00:00:00
abstract::Homologous recombination provides a means for the in vivo construction of recombinant DNA molecules that may be problematic to assemble in vitro. We have investigated the efficiency of recombination within the Caenorhabditis elegans germ line as a function of the length of homology between recombining molecules. Our f...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkm857
更新日期:2007-01-01 00:00:00
abstract::Electrophoretic mobility shift assays (EMSA) were used to define the regions of the INO1 promoter that interact with factors present in extracts prepared from the yeast, Saccharomyces cerevisae. These experiments identified three different types of protein:DNA complexes that assemble with the INO1 promoter. Formation ...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/19.14.3987
更新日期:1991-07-25 00:00:00
abstract::Pre-mRNA transcripts in a variety of organisms, including plants, Drosophila and Caenorhabditis elegans, contain introns which are significantly richer in adenosine and uridine residues than their flanking exons. Previous analyses using exonic and intronic replacements between two nonequivalent 5'splice sites in the 4...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/25.5.1071
更新日期:1997-03-01 00:00:00
abstract::5' mediated cytoplasmic RNA decay is a conserved cellular process in eukaryotes. While the functions of the structured core domains in this pathway are well-studied, the role of abundant intrinsically disordered regions (IDRs) is lacking. Here we reconstitute the Dcp1:Dcp2 complex containing a portion of the disordere...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gky233
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abstract::Studies of bacterial chromosomes and plasmids indicate that their replication initiator proteins bind to origins of replication at many double-stranded sites and also at AT-rich regions where single-stranded DNA is exposed during origin opening. Single-strand binding apparently promotes origin opening by stabilizing a...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkaa826
更新日期:2020-11-04 00:00:00
abstract::The PD-(D/E)XK type II restriction endonuclease ThaI cuts the target sequence CG/CG with blunt ends. Here, we report the 1.3 Å resolution structure of the enzyme in complex with substrate DNA and a sodium or calcium ion taking the place of a catalytic magnesium ion. The structure identifies Glu54, Asp82 and Lys93 as t...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkq834
更新日期:2011-01-01 00:00:00
abstract::It has been recently reported that the pR plasmid enhances the UV survival in E.coli c600. In order to test whether this function may be expressed also in mammalian cells, LTA (tk- aprt-) mouse cells were cotransformed with pR plasmid DNA and ptk1 plasmid as selectable marker. Tk+ transformants were analyzed for their...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/11.11.3679
更新日期:1983-06-11 00:00:00
abstract::Actin is a major cytoskeletal protein in eukaryotes. Recent studies suggest more diverse functional roles for this protein. Actin mRNA is known to be localized to neuronal synapses and undergoes rapid deadenylation during early developmental stages. However, its 3'-untranslated region (UTR) is not characterized and th...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkn624
更新日期:2008-11-01 00:00:00
abstract::Post-transcriptional modifications in archaeal RNA are known to be phylogenetically distinct but relatively little is known of tRNA from the Methanococci, a lineage of methanogenic marine euryarchaea that grow over an unusually broad temperature range. Transfer RNAs from Methanococcus vannielii, Methanococcus maripalu...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/29.22.4699
更新日期:2001-11-15 00:00:00
abstract::DNA sequences, that control expression of the spliced leader (SL) RNA gene in the parasitic protozoan Leishmania amazonensis, were mapped by block substitution mutagenesis. In the absence of a functional in vitro system for transcription, no promoter elements have yet been identified in this organism. We therefore dev...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/22.11.1959
更新日期:1994-06-11 00:00:00
abstract::DNA triplet repeats, 5'-d(CTG)n and 5'-d(CAG)n, are present in genes which have been implicated in several neurodegenerative disorders. To investigate possible stable structures formed by these repeating sequences, we have examined d(CTG)n, d(CAG)n and d(CTG).d(CAG)n (n = 2 and 3) using NMR and UV optical spectroscopy...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/23.21.4303
更新日期:1995-11-11 00:00:00
abstract::Here we describe the application of a novel combinatorial method, restriction endonuclease protection selection and amplification (REPSA), to identification of a consensus DNA binding site for the TATA binding subunit (hTBP) of the human general transcription factor TFIID. Unlike most combinatorial methods, REPSA is b...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/25.16.3339
更新日期:1997-08-15 00:00:00
abstract::Poly 2'0-ethylcytidylic acid (poly (Ce)) was prepared by polymerization of 2'-0-ethylcytidine-5'-pyrophosphate with Escherichia coli polynucleotide phosphorylase in the presence of Mn++, and its properties compared with those of poly (rC), poly (Cm) and poly (dC). The neutral form of pOLY (Ce) exhibits properties simi...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/3.3.817
更新日期:1976-03-01 00:00:00
abstract::Human adenovirus mutants that carry a large deletion in early region 4 (E4) are severely defective in the synthesis of viral late proteins. Plasmids that carry intact E4 sequences can complement the late protein synthetic defect of such mutants when introduced into infected cells by transfection, presumably due to the...
journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:1989-04-25 00:00:00
abstract::The chromatin structure of yeast ribosomal DNA was analyzed in vivo by crosslinking intact cells with psoralen. We found that in exponentially growing cultures the regions coding for the 35S rRNA precursor fall into two distinct classes. One class was highly accessible to psoralen and associated with nascent RNAs, cha...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/21.10.2331
更新日期:1993-05-25 00:00:00
abstract::The representational difference analysis (RDA) and other subtraction techniques are used to enrich sample-specific sequences by elimination of ubiquitous sequences existing in both the sample of interest (tester) and the subtraction partner (driver). While applying the RDA to genomic DNA of cutaneous lymphoma cells in...
journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:2001-02-15 00:00:00
abstract::Accumulating evidence has demonstrated that transcriptional regulation is affected by DNA methylation. Understanding the perturbation of DNA methylation-mediated regulation between transcriptional factors (TFs) and targets is crucial for human diseases. However, the global landscape of DNA methylation-mediated transcr...
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更新日期:2020-03-18 00:00:00
abstract::Stabilization of stalled replication forks prevents excessive fork reversal or degradation, which can undermine genome integrity. The WRN protein is unique among the other human RecQ family members to possess exonuclease activity. However, the biological role of the WRN exonuclease is poorly defined. Recently, the WRN...
journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:2019-07-26 00:00:00
abstract::Hidden Markov models (HMMs) and their variants are widely used in Bioinformatics applications that analyze and compare biological sequences. Designing a novel application requires the insight of a human expert to define the model's architecture. The implementation of prediction algorithms and algorithms to train the m...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkp662
更新日期:2009-11-01 00:00:00
abstract::The organelle genome database GOBASE, now in its 21st release (June 2008), contains all published mitochondrion-encoded sequences (approximately 913,000) and chloroplast-encoded sequences (approximately 250,000) from a wide range of eukaryotic taxa. For all sequences, information on related genes, exons, introns, gene...
journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:2009-01-01 00:00:00
abstract::We have previously shown that Y box-binding protein-1 (YB-1) binds preferentially to cisplatin-modified Y box sequences. Based on structural and biochemical data, we predicted that this protein binds single-stranded nucleic acids. In the present study we confirmed the prediction and also discovered some unexpected fun...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/29.5.1200
更新日期:2001-03-01 00:00:00
abstract::Long non-coding RNAs (lncRNAs) play critical roles in diverse cellular processes; however, their involvement in many critical aspects of the immune response including the interferon (IFN) response remains poorly understood. To address this gap, we compared the global gene expression pattern of primary human hepatocyte...
journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:2014-01-01 00:00:00
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journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:1989-12-11 00:00:00
abstract::This work presents a neutral filter elution method for detecting DNA double strand breaks in mouse L1210 cells after X-ray. The assay will detect the number of double strand breaks induced by as little as 1000 rad of X-ray. The rate of DNA elution through the filters under neutral conditions increases with X-ray dose....
journal_title:Nucleic acids research
pub_type: 杂志文章
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更新日期:1979-10-10 00:00:00
abstract::The putative role of double-strand breaks (DSBs) created in vitro by restriction enzyme cleavage in or near CGG*CCG or CTG*CAG repeat tracts on their genetic instabilities, both within the repeats and in their flanking sequences, was investigated in an Escherichia coli plasmid system. DSBs at TRS junctions with the ve...
journal_title:Nucleic acids research
pub_type: 杂志文章
doi:10.1093/nar/gkl612
更新日期:2006-01-01 00:00:00